Novel TRIM32 mutation in sarcotubular myopathy

Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dystrophy 2H. In a 66 old woman with disto-proximal myopathy, we...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Acta Myol
Main Authors: PANICUCCI, CHIARA, TRAVERSO, MONICA, BARATTO, SERENA, ROMEO, CHIARA, IACOMINO, MICHELE, GEMELLI, CHIARA, TAGLIAFICO, ALBERTO, BRODA, PAOLO, ZARA, FEDERICO, BRUNO, CLAUDIO, MINETTI, CARLO, FIORILLO, CHIARA
Format: Artigo
Sprog:Inglês
Udgivet: Pacini Editore srl 2019
Fag:
Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6598407/
https://ncbi.nlm.nih.gov/pubmed/31309175
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker